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10 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
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SPECC1
sperm antigen with calponin homology and coiled-coil domains 1
Chromosome 17 · 17p11.2
NCBI Gene: 92521Ensembl: ENSG00000128487.19HGNC: HGNC:30615UniProt: A0A7I2V416
81PubMed Papers
20Diseases
0Drugs
1Pathogenic Variants
FUNCTIONAL ROLE
Oncogene
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
nucleoplasmactin cytoskeleton organizationmicrotubule organizing centerfilamentous actinAbnormality of the skeletal systemmathematical abilityalopecia areataschizophrenia
✦AI Summary

SPECC1 (sperm antigen with calponin homology and coiled-coil domains 1) is a gene located on chromosome 17 that encodes proteins involved in actin cytoskeleton organization and microtubule organization. The gene is primarily characterized through its circular RNA form (circSPECC1), which functions as a regulatory molecule in multiple cancer contexts. CircSPECC1 acts as a competing endogenous RNA (ceRNA) or "sponge" that sequesters microRNAs, preventing their interactions with target mRNAs. In glioblastoma, circSPECC1 encodes a novel 415-amino acid protein (SPECC1-415aa) that suppresses tumor progression and restores temozolomide sensitivity by inhibiting EGFR and AKT phosphorylation 1. In hepatocellular carcinoma, circSPECC1 sponges miR-33a to regulate TGFβ2 expression and autophagy under oxidative stress 2. In gastric cancer, circSPECC1 enhances miR-526b inhibition of the KDM4A/YAP1 pathway, suppressing proliferation and invasion 3. Conversely, in prostate cancer, circSPECC1 promotes epithelial-mesenchymal transition and cell proliferation 4. In age-related macular degeneration, circSPECC1 deficiency leads to oxidative stress-induced ferroptosis in retinal pigment epithelium; circSPECC1 sponges miR-145-5p to protect against retinal degeneration 5. Additionally, SPECC1 was identified as a fusion partner with NUTM1 in rare pulmonary NUT carcinoma 6. These diverse roles suggest SPECC1 functions as a regulatory hub with context-dependent tumor-suppressive or tumor-promoting effects.

Sources cited
1
circSPECC1 encodes SPECC1-415aa protein that suppresses glioblastoma proliferation, migration, and invasion while restoring TMZ sensitivity via inhibition of EGFR and AKT phosphorylation
PMID: 39333871
2
circSPECC1 sponges miR-33a to regulate TGFβ2 and autophagy under oxidative stress in hepatocellular carcinoma tumorigenesis
PMID: 32627938
3
circSPECC1 enhances miR-526b inhibition of the KDM4A/YAP1 pathway to suppress gastric cancer cell growth and invasion
PMID: 31349968
4
circSPECC1 promotes prostate cancer cell proliferation and migration by promoting epithelial-mesenchymal transition markers
PMID: 37020791
5
circSPECC1 deficiency causes oxidative stress-induced ferroptosis and lipid metabolism dysfunction in retinal pigment epithelium; circSPECC1 sponges miR-145-5p to protect against age-related macular degeneration
PMID: 36384115
6
SPECC1 identified as a novel fusion partner with NUTM1 in pulmonary NUT carcinoma
PMID: 40152114
Disease Associationsⓘ20
Abnormality of the skeletal systemOpen Targets
0.47Moderate
mathematical abilityOpen Targets
0.42Moderate
alopecia areataOpen Targets
0.30Weak
schizophreniaOpen Targets
0.28Weak
myoepithelial tumorOpen Targets
0.26Weak
hepatocellular carcinomaOpen Targets
0.20Weak
lung adenocarcinomaOpen Targets
0.19Weak
osteosarcomaOpen Targets
0.19Weak
small cell lung carcinomaOpen Targets
0.19Weak
non-small cell lung carcinomaOpen Targets
0.19Weak
acute myeloid leukemiaOpen Targets
0.19Weak
breast carcinomaOpen Targets
0.19Weak
head and neck squamous cell carcinomaOpen Targets
0.19Weak
lung carcinomaOpen Targets
0.19Weak
urinary bladder carcinomaOpen Targets
0.19Weak
bile duct adenocarcinomaOpen Targets
0.18Weak
endometrial carcinomaOpen Targets
0.18Weak
oral cavity carcinomaOpen Targets
0.18Weak
papillary thyroid carcinomaOpen Targets
0.18Weak
Uterine CarcinosarcomaOpen Targets
0.18Weak
Pathogenic Variants1
NM_001243439.2(SPECC1):c.1747A>G (p.Met583Val)Likely pathogenic
Myoepithelial tumor
☆☆☆☆2022→ Residue 583
View on ClinVar ↗
Related Genes
FLNBShared pathway100%SPTAN1Shared pathway100%ACAP1Shared pathway100%PHACTR2Shared pathway100%THSD7BShared pathway100%SMTNL2Shared pathway100%
Tissue Expression6 tissues
Bone Marrow
100%
Brain
64%
Ovary
40%
Heart
14%
Lung
12%
Liver
3%
Gene Interaction Network
Click a node to explore
SPECC1FLNBSPTAN1ACAP1PHACTR2THSD7BSMTNL2
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted · UniProt Q5M775
View on AlphaFold ↗
Constraintⓘ
LOEUFⓘ
0.75LoF Tolerant
pLIⓘ
0.00Tolerant
Observed/Expected LoF0.61 [0.49–0.75]
RankingsWhere SPECC1 stands among ~20K protein-coding genes
  • #5,900of 20,598
    Most Researched81
  • #4,960of 5,498
    Most Pathogenic Variants1
  • #5,968of 17,882
    Most Constrained (LOEUF)0.75
Genes detectedSPECC1
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
A novel protein SPECC1-415aa encoded by N6-methyladenosine modified circSPECC1 regulates the sensitivity of glioblastoma to TMZ.
PMID: 39333871
Cell Mol Biol Lett · 2024
1.00
2
Circ-SPECC1 modulates TGFβ2 and autophagy under oxidative stress by sponging miR-33a to promote hepatocellular carcinoma tumorigenesis.
PMID: 32627938
Cancer Med · 2020
0.90
3
m
PMID: 36384115
Cell Rep · 2022
0.80
4
Challenging diagnosis in pulmonary nut carcinoma: A report of two cases with different histopathologic and molecular features and a novel
PMID: 40152114
Histol Histopathol · 2025
0.70
5
Circ_0000745 promotes acute lymphoblastic leukemia progression through mediating miR-494-3p/NET1 axis.
PMID: 34957935
Hematology · 2022
0.60